A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease

Neurodegener Dis Manag. 2017 Oct;7(5):307-315. doi: 10.2217/nmt-2017-0019. Epub 2017 Oct 18.

Abstract

Aim: The symptoms of Huntington's disease are well known, yet the symptoms of juvenile Huntington's disease (JHD) are less established due to its rarity. The study examined a cluster of symptoms considered to be common, but under-recognized in JHD: pain, itching, sleeping difficulties, psychosis and tics.

Materials & methods: A symptom survey was constructed using the online tool Qualtrics and dispersed to JHD caregivers through websites.

Results: A total of 33 surveys were completed. Disrupted sleep was the most prevalent symptom (87%), followed by tics (78%), pain (69%), itching (60%) and psychosis (39%).

Conclusion: Despite limitations, the study supports that there are symptoms in the JHD population that are not considered classic, however, are common and significant for patients and caregivers.

Keywords: Huntington's disease; itching; juvenile onset; pain; psychosis; sleep; symptoms; tics.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Huntingtin Protein / genetics
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics
  • Huntington Disease / physiopathology*
  • Male
  • Phenotype
  • Surveys and Questionnaires
  • Trinucleotide Repeat Expansion
  • Young Adult

Substances

  • HTT protein, human
  • Huntingtin Protein